Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome

Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with dif...

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Bibliographic Details
Main Authors: Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du
Format: Article
Language:English
Published: Wiley 2018-01-01
Series:International Journal of Genomics
Online Access:http://dx.doi.org/10.1155/2018/1246516
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